激素耐药肾病伴泌尿生殖器异常患儿的临床及WT1基因检测.pdf

中南大学学报(医学版) J cem somh U‰ tMed sc 、 2 ，32(6) 949 Clinical characteristics and删 genetic analysis of patients with steroid resistant nephrotic syndrome accompanied with genitourinary malformations LI Jian—guo，ZHAO Dan，DING Jie，XIAO Hui-jie，GUAN Na，FAN Qing—feng，ZHANG Hong—wen (Department ofPediatrics，Peking University First Hospital，Beijing 100034，China) Abstract： Objective To understand ” mutations in patients with steroid resistant nephrotic syndrome(SRNS)accompanied with genitourinary malformations．Methods Three cases of SRNS ac— companied with genitourinary malformations were enrolled．The expression of podocyte molecules(neph— rin，podocin， 一actinin-4， ”，and CD2AP)in 2 cases was analyzed with the immunofluorescence and immunohistochemistry techniques．The genomic DNA and cDNA of WTl were analyzed by using PCR and RT—PCR，respectively．GeneScan and GeneScan software were used to quantify the ratio of+KTS／一KTS isoforms．Results The onset ages of 3 cases were 6 months 1 year，and 10 years old，respectively． ， The diagnosis age was 7 months，9 years，and 15 years old respectively．The phenotype of Case 1 and ， Case 3 was male accompanied with genitourinary malformations．Case 2 was phenotypic female．Karyo— type analysis of 3 cases revealed 46，XY．Three cases were diagnosed as SRNS．Focal segmental glomer- ulosclerosis(FSGS)was confirmed in 2 cases．Podocyte molecular expression altered in renal tissues of 2 cases．In addition．WTl staining was negative in Case 1．WTl expr